Canonical Allele Identifier: CA3964143

Gene: CCN6

Linked Data

• ClinVar Variation Id: 2429199
• ClinVar RCV Id: RCV003123438
• dbSNP Id: rs782592477
• ExAC: 6:112390781 C / CA
• gnomAD v2: 6-112390781-C-CA
• gnomAD v4: 6-112069578-C-CA
• MyVariant Identifiers: chr6:g.112390781_112390782insA (hg19) ; chr6:g.112069578_112069579insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.112069579dup , CM000668.2:g.112069579dup	GRCh38
NC_000006.11:g.112390782dup , CM000668.1:g.112390782dup	GRCh37
NC_000006.10:g.112497475dup	NCBI36
NG_011748.1:g.20505dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368666.7:c.1024dup MANE Select	ENSP00000357655.4:p.Arg342LysfsTer9
ENST00000639360.1:c.925dup	ENSP00000491774.1:p.Arg309LysfsTer9
ENST00000230529.9:c.1024dup	ENSP00000230529.5:p.Arg342LysfsTer9
ENST00000361714.5:c.1024dup	ENSP00000354734.2:p.Arg342LysfsTer9
ENST00000368663.4:c.*330dup	ENSP00000357652.4:n.*330dup
ENST00000368664.7:c.*428dup	ENSP00000357653.3:n.*428dup
ENST00000368666.6:c.1078dup	ENSP00000357655.3:p.Arg360LysfsTer9
ENST00000409166.5:c.352dup	ENSP00000386467.1:p.Arg118LysfsTer9
ENST00000454589.5:c.*428dup	ENSP00000395928.1:n.*428dup
ENST00000604763.5:c.1024dup	ENSP00000473777.1:p.Arg342LysfsTer9
ENST00000613648.1:n.859dup
ENST00000620524.3:n.955dup
NM_003880.3:c.1024dup	NP_003871.1:p.Arg342LysfsTer9
NM_198239.1:c.1078dup	NP_937882.1:p.Arg360LysfsTer9
NR_125353.1:n.1278dup
NR_125354.1:n.1198dup
XM_011536220.1:c.1024dup	XP_011534522.1:p.Arg342LysfsTer9
XM_011536221.1:c.*428dup	XP_011534523.1:n.*428dup
XM_011536223.1:c.442dup	XP_011534525.1:p.Arg148LysfsTer9
XM_011536223.3:c.442dup	XP_011534525.1:p.Arg148LysfsTer9
XR_001743705.1:n.1626dup
NM_003880.4:c.1024dup	NP_003871.1:p.Arg342LysfsTer9
NM_198239.2:c.1024dup MANE Select	NP_937882.2:p.Arg342LysfsTer9
NR_125353.2:n.1342dup
NR_125354.3:n.1169dup